Paralogue Annotation for RYR2 residue 682

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 682
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 682

No paralogue variants have been mapped to residue 682 for RYR2.

RYR2	VSSMRPNIFLGVSEGSAQYKKWYYELMVDH>T<EPFVTAEATHLRVGWASTEGYSPYPGGGEE	712
RYR1	VTSIRPNIFVGRAEGTTQYSKWYFEVMVDE>V<TPFLTAQATHLRVGWALTEGYTPYPGAGEG	700
RYR3	VTSIRPNIFLGVAEGSAQYKKWYFELIIDQ>V<DPFLTAEPTHLRVGWASSSGYAPYPGGGEG	699
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T682R	c.2045C>G	Putative Benign		rs377285489	SIFT: deleterious Polyphen: benign